There was a lot of goodwill – even love – at the Wellcome Genome Campus conference centre for RAREsummit this week.

The breakthrough event for Cambridge families with rare disease offspring occurred late last year, when Cambridge Rare Disease Network (CRDN) – the organisers of this gathering of academics, scientists, investors, entrepreneurs, medics and relevant family network leaders – hosted RAREfest at the Guildhall.

The palpable emotion felt by many families when they realise their children will receive relevant treatment for their rare diseases – there are 1.5million rare disease sufferers in the UK, and 95 per cent of them have no treatment – reflects their relief that they will not be alone in their struggle, and that treatment is on the way. Not for nothing did Jonathan Milner, Abcam’s founder and a CRDN trustee, say in his introductory keynote that the charity “is very close to my heart”.

“Warm thanks go to the sponsors and to Jo Balfour, CRDN’s superstar, who has worked tirelessly and walked through walls to get this event going,” Jonathan told the Wellcome audience. “One thing unites everyone here is that we all want to make a difference to patients’ lives, and this is what motivates and inspires us.

“We now live in a golden age of biology – the rate of discovery means there’s never been a time like it, and new discoveries get through to patients at a faster rate than ever.”

Alastair Kent OBE, a former director of Genetic Alliance UK and the speaker after Jonathan, explained how healthcare arrived in the genomics era.

Alastair timelined the story of medicine from 500,000 years ago to the first inklings of healing in ancient Greece, through the “four humours” of the Middle Ages, and the subsequent discovery of anatomy, germs, antibiotics, DNA and monoclonal antibodies. The healthcare model has altered drastically: in 1995, Alastair said, it cost $2.25billion to sequence the genomes of two microbes. “Today the cost of sequencing your genome is $1,000 and the cost is still falling.”And indeed, we now live in an era when your can get your DNA sequenced on the NHS.

The upshot of this vast amount of knowledge is that “there are a growing number of therapies which have the potential to be curative rather than treatments” – an astonishing development. And the suggestion that rare diseases can be reversed is, of course, very good news for families. Speaker Carina Thurgood, who outlined her work for The Maddi Foundation which she runs, has a teenage daughter with Spastic Paraplegia Gene 15, or SPG15. “My mission is to find a cure for my daughter’s ultra-rare disease,” she told the audience – and it hasn’t been easy. With doctors in the US and Canada unable to help, Carina found support at Sheffield University, at which point the fundraising began.
“It’s a nice conference and I’ve already met someone who’s studying SPG15,” said a happy Carina.

Another of the speakers was Dr Gemma Chandratillake, education and training lead for the East of England Genomic Medicine Centre and a CRDN trustee.

“RAREsummit19 was great, wasn’t it?” said Gemma of the occasion. “My talk was about a piece of research that we’ve done looking at making genetic test reports easier to understand by non-specialist healthcare professionals and patients.

Baroness Nicola Blackwood at RAREsummit. Picture: Martyn Postle

“It’s important that both clinicians and patients understand what to do next once they receive a genetic test result, both for the patient and for their family. We know that current reports are difficult to understand, so we worked with non-specialist clinicians, patients, and members of the public to design a new template report and then tested it against reports that are currently in use.

“The new reports scored much higher for clarity, subjective comprehension, actionability, and communication efficacy. This work was done as a collaboration between the NHS Genomic Medicine Centre, and the Winton Centre for Risk & Evidence Communication at the University.We recruited participants at a previous CRDN event. In our talk, we interviewed one of the study participants who is a nurse in a polyposis registry who really believes that the project could help with the communication of genetic test results to patients and families.”

“It’s all about putting the right people in front of each other at the right time as equals and we clearly heard at RAREsummit that the time is right for patients to become valued partners in the future of rare disease,” said Jo Balfour, a founding member of CRDN and its operations manager. “In true CRDN style, we created a welcoming forum that saw 250 delegates represent more than 60 rare disease patient groups, healthcare settings from across the UK, tech and pharma companies from start-ups through to big players such as Astra Zeneca, GSK, Illumina and Microsoft,scientists, researchers and government officials.

“The buzz during the networking exhibition was so exciting – patient groups being approached by scientists and companies who brought music to their ears, saying, ‘I think we know a way we can help’ – and so the collaborations begin.

“Baroness Nicola Blackwood launched our first hackathon activity with an invitation to join a national debate about the future of rare disease.

“A huge thanks also to Alastair Kent for expertly compering the day, to all of our speakers for their wisdom and passion, to the many exhibitors who shared their work with us, the hackathon facilitators who helped generate 5 great pitches and to our generous sponsors who enabled our charity to deliver such a great event.

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